ClinVar for MedGen (Select 765488) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238945	NM_033163.5(FGF8):c.157-14T>C	FGF8	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 3238944	NM_033163.5(FGF8):c.195G>C (p.Val65=)	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 1708951	NM_033163.5(FGF8):c.278A>G (p.His93Arg)	FGF8 (H53R +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 1271093	NM_033163.5(FGF8):c.444+19G>A	FGF8	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 6 with or without anosmia +1 more	GBenign
Select item 1031556	NM_033163.5(FGF8):c.335_337+2del	FGF8	Deletion (splice donor variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 983051	NM_033163.5(FGF8):c.157-6C>G	FGF8	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 599013	NM_033163.5(FGF8):c.379C>T (p.Arg127Ter)	FGF8 (R127* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 545463	NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)	FGF8	Duplication (inframe_insertion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 435185	NM_033163.5(FGF8):c.628_629dup (p.His211fs)	FGF8 (H182fs +4 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GLikely pathogenic
Select item 235082	NM_033163.5(FGF8):c.385C>T (p.Arg129Ter)	FGF8 (R129* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 235081	NM_033163.5(FGF8):c.356C>T (p.Thr119Met)	FGF8 (T119M +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 218825	NM_033163.5(FGF8):c.445-62G>A	FGF8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 140613	NM_033163.5(FGF8):c.237C>G (p.Leu79=)	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	FGF8-related disorder	GLikely benign
Select item 140612	NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)	FGF8 (G151S +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 9126	NM_033163.5(FGF8):c.686C>T (p.Thr229Met)	FGF8 (T229M +4 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 1 +1 more	GConflicting classifications of pathogenicity
Select item 9125	NM_033163.5(FGF8):c.379C>G (p.Arg127Gly)	FGF8 (R127G +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GPathogenic
Select item 9124	NM_033163.5(FGF8):c.298A>G (p.Lys100Glu)	FGF8 (K100E +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GPathogenic
Select item 9123	NM_033163.5(FGF8):c.118T>C (p.Phe40Leu)	FGF8 (F40L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GPathogenic
Select item 9122	NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)	FGF8 (P26L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 9121	NM_033163.5(FGF8):c.40C>A (p.His14Asn)	FGF8 (H14N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GPathogenic

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Items: 20